Kinning E - Search Results

1

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.

El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V. El Ghouzzi V, et al. Among authors: kinning e. Hum Mol Genet. 2003 Feb 1;12(3):357-64. doi: 10.1093/hmg/ddg029. Hum Mol Genet. 2003. PMID: 12554689

2

Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing.

Hocking LJ, Andrews C, Armstrong C, Ansari M, Baty D, Berg J, Bradley T, Clark C, Diamond A, Doherty J, Lampe A, McGowan R, Moore DJ, O'Sullivan D, Purvis A, Santoyo-Lopez J, Westwood P, Abbott M, Williams N; Scottish Genomes Partnership; Aitman TJ, Miedzybrodzka Z. Hocking LJ, et al. Eur J Hum Genet. 2023 Feb;31(2):231-238. doi: 10.1038/s41431-022-01226-3. Epub 2022 Dec 6. Eur J Hum Genet. 2023. PMID: 36474026 Free PMC article.

3

First case of desmosterolosis diagnosed by prenatal whole exome sequencing.

Hill C, Noureldein M, Karkhanis P, Kinning E, Vijay S, Gowda H. Hill C, et al. Among authors: kinning e. Am J Med Genet A. 2023 Mar;191(3):859-863. doi: 10.1002/ajmg.a.63083. Epub 2022 Dec 20. Am J Med Genet A. 2023. PMID: 36538928

4

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.

Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.

5

Progressive osseous heteroplasia: A case report with an unexpected trigger.

Boncompagni A, Lucas-Herald AK, Beattie P, McDevitt H, Iughetti L, Constantinou P, Kinning E, Ahmed SF, Mason A. Boncompagni A, et al. Among authors: kinning e. Bone Rep. 2023 Feb 23;18:101665. doi: 10.1016/j.bonr.2023.101665. eCollection 2023 Jun. Bone Rep. 2023. PMID: 36936194 Free PMC article.

6

An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5.

Michaelides M, Johnson S, Tekriwal AK, Holder GE, Bellmann C, Kinning E, Woodruff G, Trembath RC, Hunt DM, Moore AT. Michaelides M, et al. Among authors: kinning e. Invest Ophthalmol Vis Sci. 2003 May;44(5):2178-83. doi: 10.1167/iovs.02-1094. Invest Ophthalmol Vis Sci. 2003. PMID: 12714659

7

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.

Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dörfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dörr HG, Reis A. Rauch A, et al. Among authors: kinning e. Science. 2008 Feb 8;319(5864):816-9. doi: 10.1126/science.1151174. Epub 2008 Jan 3. Science. 2008. PMID: 18174396

8

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.

Southgate L, Dafou D, Hoyle J, Li N, Kinning E, Critchley P, Németh AH, Talbot K, Bindu PS, Sinha S, Taly AB, Raghavendra S, Müller F, Maher ER, Trembath RC. Southgate L, et al. Among authors: kinning e. Neurogenetics. 2010 Oct;11(4):379-89. doi: 10.1007/s10048-010-0243-8. Neurogenetics. 2010. PMID: 20390432 Free PMC article.

9

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E, Guerrot AM, Flahaut P, Duncombe A, Baujat G, Lyonnet S, Thalassinos C, Nitschke P, Casanova JL, Le Merrer M, Munnich A, Cormier-Daire V. Michot C, et al. Among authors: kinning e. Am J Hum Genet. 2012 Apr 6;90(4):740-5. doi: 10.1016/j.ajhg.2012.03.003. Epub 2012 Mar 29. Am J Hum Genet. 2012. PMID: 22464250 Free PMC article.

10

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

Terhal PA, van Dommelen P, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Kinning E, Mansour S, Hennekam RC, van der Hout AH, Cormier-Daire V, Lund AM, Goodwin L, Mégarbané A, Lees M, Betz RC, Tobias ES, Coucke P, Mortier GR. Terhal PA, et al. Among authors: kinning e. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):205-16. doi: 10.1002/ajmg.c.31332. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791362

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